Diagnosis

Yesterday researchers announced that they have identified seven gene regions linked to causing coeliac disease.

Also the research found that four of these gene regions are responsible for a predisposition to Type 1 diabetes (the type which occurs from birth), indicating that these discoveries may have broad implications for a range of inflammatory or autoimmune diseases.

Previous studies identified a genetic region on chromosome four associated with coeliac disease. In this study, the same research group identified seven new genetic regions associated with an increased risk of coeliac disease. They compared genetic markers in people with and without coeliac disease and then assessed about 1,000 of the strongest markers in a further 5,000 samples.

The results, published in Nature Genetics (Hunt, K. Nature Genetics, March 2, 2008), identified seven new genetic risk regions associated with celiac disease. Of those seven mutations, six involve genes that control immune responses (four of these, presumably, being the diabetic-type response).

The research team included collaborators from Ireland, the Netherlands, and the Wellcome Trust Sanger Institute, and was led by David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry.

Professor van Heel said: “So far our findings explain nearly half of the heritability of coeliac disease – now studies with many more samples from individuals with coeliac disease are needed to identify the precise causal genetic variants from each region, and understand how these influence biological processes.”

Does this mean we may be a step closer to a solution?

We already know that coeliac disease and diabetes are linked – and that people with some other auto-immune problems may be helped with a gluten free diet. It’s good to have scientific confirmation of […]

An extraordinary plotline for a UK hospital soap today, announced in The Sun:

Hayley Tamaddon is … stripper Alison who goes to hospital as she is stuck in her skin-tight PVC nurse’s uniform.

An ITV1 spokeswoman said: “Alison’s stomach has swollen mid-act so she’s stuck in her costume! Then she is diagnosed with Coeliac Disease and needs a bowel biopsy.

“But Alison doesn’t want her expensive outfit cut off until her husband – who doesn’t know she’s a stripper – arrives on the scene! But he’s got a secret too!”

Nice to have exposure for coeliac disease, but this seems a most unlikely route to diagnosis to me. For most people it takes months – usually years – to get a diagnosis. I’ve never heard of anyone diagnosed in A&E before. Yes, I do know this is made-up, but it would be nice if it was a bit more realistic. More likely, the stripper would be wasting away gradually – so, skinny arms and legs, bloated belly, bad skin and look terribly tired – and keep having to leave the stage in a hurry to get to the bathroom …

Anybody out there who had to have their clothes cut off for an emergency diagnosis of coeliac disease? (And a ‘bowel biopsy’?)

A new genetic risk factor for celiac disease has been found, and the researchers believe it could lead to improved diagnostics and treatment.

People with celiac disease (coeliac disease) do not have a protective DNA sequence in a particular gene region – people without celiac disease do have this. The researchers say that this DNA sequence leads to the production of proteins which control inflammation – without this sequence, there would be fewer anti-inflammatory proteins.

This study was headed by David van Heel, Professor of Gastrointestinal Genetics at Queen Mary, University of London, and was funded by Coeliac UK and the Wellcome Trust.

This is a great finding – but it will take a long time for this to filter through to improved diagnostics and treatment, as it always does. Still … bring it on! It would be great to know who else in a family group has the genetic deficiency, and even better if there were treatment available.

Watch this space.

You’ve been diagnosed as needing a gluten-free diet, and you’ve been following the diet for a while – what follow up tests should you expect?

Our daughter goes annually now to see her paediatrician* for a checkup – it used to be every six months when she was younger, and newly diagnosed, but we’re old hands at this now, and she’s doing well.

We discuss:

• her growth (height and weight) against the standard growth charts, to be sure she’s growing in all the right places and directions
• her eating and sleep patterns
• her general health and her rate of maturation (puberty)
• and yes, the dreaded poo questions. Have you all seen the poo chart? It has 7 photos of different stool samples, and she has to identify her “standard product”. Fun for all the family to play …

The aim should be to produce something like number 4!

Then the doctor orders some tests – usually some blood tests to be sure that she is sticking to her diet and that everything is working OK, and a bone age scan.

This last isn’t the same as a bone density scan (which I imagine you would need as an older person), but assesses how well her bones are growing against her chronological age. In the ‘old days’, soon after diagnosis, her bones were several years behind her real age, but they seem to be catching up now.

Then that’s it for another year.

Other tests you might receive include:

• blood tests for vitamin and mineral deficiencies
• thyroid screen – this is because coeliacs have a greater chance of getting an underactive thyroid, with weight gain, feeling tired, cold and depressed. […]